ClinVar for MedGen (Select 322209) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25051661.	NM_001145809.2(MYH14):c.5380G>A (p.Gly1794Arg) GRCh37: Chr19:50796855 GRCh38: Chr19:50293598	MYH14	G1753R, G1761R, G1794R	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jun 2, 2023)	criteria provided, single submitter
Select item 25051652.	NM_001145809.2(MYH14):c.571G>A (p.Asp191Asn) GRCh37: Chr19:50726348 GRCh38: Chr19:50223091	MYH14	D191N	Autosomal dominant nonsyndromic hearing loss 4A	Likely pathogenic (Jun 2, 2023)	criteria provided, single submitter
Select item 25051643.	NM_001145809.2(MYH14):c.571G>C (p.Asp191His) GRCh37: Chr19:50726348 GRCh38: Chr19:50223091	MYH14	D191H	Autosomal dominant nonsyndromic hearing loss 4A	Likely pathogenic (Jun 2, 2023)	criteria provided, single submitter
Select item 25051634.	NM_001145809.2(MYH14):c.547C>T (p.Arg183Trp) GRCh37: Chr19:50721013 GRCh38: Chr19:50217756	MYH14	R183W	Autosomal dominant nonsyndromic hearing loss 4A, not provided	Uncertain significance (Oct 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18057395.	NM_001145809.2(MYH14):c.2933T>C (p.Leu978Pro) GRCh37: Chr19:50771524 GRCh38: Chr19:50268267	MYH14	L937P, L945P, L978P	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 16519816.	NM_001145809.2(MYH14):c.563-17C>A GRCh37: Chr19:50726323 GRCh38: Chr19:50223066	MYH14		Autosomal dominant nonsyndromic hearing loss 4A, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome, not provided	Benign/Likely benign (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13108057.	NM_001145809.2(MYH14):c.3821G>A (p.Arg1274Gln) GRCh37: Chr19:50780154 GRCh38: Chr19:50276897	MYH14	R1233Q, R1241Q, R1274Q	not provided, Autosomal dominant nonsyndromic hearing loss 4A, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	Uncertain significance (Jul 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13078758.	NM_001145809.2(MYH14):c.1631C>T (p.Pro544Leu) GRCh37: Chr19:50753055 GRCh38: Chr19:50249798	MYH14	P536L, P544L	not specified, not provided, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome, Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jun 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 12952909.	NM_001145809.2(MYH14):c.3681-26A>T GRCh37: Chr19:50779988 GRCh38: Chr19:50276731	MYH14		not provided, Autosomal dominant nonsyndromic hearing loss 4A, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 123526210.	NM_001145809.2(MYH14):c.2694+30T>C GRCh37: Chr19:50766707 GRCh38: Chr19:50263450	MYH14		Autosomal dominant nonsyndromic hearing loss 4A, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 122199711.	NM_001145809.2(MYH14):c.5788-41A>G GRCh37: Chr19:50812221 GRCh38: Chr19:50308964	MYH14		Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome, not provided, Autosomal dominant nonsyndromic hearing loss 4A	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118564912.	NM_001145809.2(MYH14):c.5990del (p.Thr1997fs) GRCh37: Chr19:50812926 GRCh38: Chr19:50309669	MYH14	T1956fs, T1964fs, T1997fs	Autosomal dominant nonsyndromic hearing loss 4A	Pathogenic	no assertion criteria provided
Select item 103406513.	NM_001145809.2(MYH14):c.491G>C (p.Gly164Ala) GRCh37: Chr19:50720957 GRCh38: Chr19:50217700	MYH14	G164A	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Nov 2, 2018)	criteria provided, single submitter
Select item 99569614.	NM_001145809.2(MYH14):c.5875C>T (p.Arg1959Trp) GRCh37: Chr19:50812349 GRCh38: Chr19:50309092	MYH14	R1918W, R1926W, R1959W	not provided, Autosomal dominant nonsyndromic hearing loss 4A, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	Uncertain significance (Jul 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 97293315.	NM_001145809.2(MYH14):c.2525T>C (p.Leu842Pro) GRCh37: Chr19:50764832 GRCh38: Chr19:50261575	MYH14	L801P, L809P, L842P	Autosomal dominant nonsyndromic hearing loss 4A, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	not provided	no assertion provided
Select item 93155016.	NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro) GRCh37: Chr19:50813037 GRCh38: Chr19:50309780	MYH14	H2034P, H2001P, H1993P	Autosomal dominant nonsyndromic hearing loss 4A, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	Uncertain significance (Feb 11, 2020)	criteria provided, multiple submitters, no conflicts
Select item 89474717.	NM_001145809.2(MYH14):c.10G>A (p.Val4Met) GRCh37: Chr19:50713632 GRCh38: Chr19:50210375	MYH14	V4M	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89474618.	NM_001145809.2(MYH14):c.-15C>G GRCh37: Chr19:50706917 GRCh38: Chr19:50203660	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 89441719.	NM_001145809.2(MYH14):c.*155T>C GRCh37: Chr19:50813202 GRCh38: Chr19:50309945	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89437820.	NM_001145809.2(MYH14):c.5303G>A (p.Arg1768Gln) GRCh37: Chr19:50796536 GRCh38: Chr19:50293279	MYH14	R1768Q, R1727Q, R1735Q	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89437721.	NM_001145809.2(MYH14):c.5284C>T (p.Arg1762Trp) GRCh37: Chr19:50796517 GRCh38: Chr19:50293260	MYH14	R1729W, R1721W, R1762W	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89437622.	NM_001145809.2(MYH14):c.5133G>C (p.Gln1711His) GRCh37: Chr19:50795523 GRCh38: Chr19:50292266	MYH14	Q1670H, Q1678H, Q1711H	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89434623.	NM_001145809.2(MYH14):c.4164G>A (p.Ala1388=) GRCh37: Chr19:50783514 GRCh38: Chr19:50280257	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89434524.	NM_001145809.2(MYH14):c.4059G>A (p.Ala1353=) GRCh37: Chr19:50783320 GRCh38: Chr19:50280063	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89434425.	NM_001145809.2(MYH14):c.3973C>T (p.Arg1325Trp) GRCh37: Chr19:50781487 GRCh38: Chr19:50278230	MYH14	R1325W, R1292W, R1284W	not provided, Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (May 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89428226.	NM_001145809.2(MYH14):c.2257G>T (p.Val753Leu) GRCh37: Chr19:50762425 GRCh38: Chr19:50259168	MYH14	V753L, V712L, V720L	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 89428127.	NM_001145809.2(MYH14):c.2251C>T (p.Arg751Trp) GRCh37: Chr19:50762419 GRCh38: Chr19:50259162	MYH14	R710W, R718W, R751W	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89428028.	NM_001145809.2(MYH14):c.2248C>G (p.Pro750Ala) GRCh37: Chr19:50762416 GRCh38: Chr19:50259159	MYH14	P709A, P717A, P750A	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89401529.	NM_001145809.2(MYH14):c.*86G>A GRCh37: Chr19:50813133 GRCh38: Chr19:50309876	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Likely benign (Mar 6, 2018)	criteria provided, single submitter
Select item 89401430.	NM_001145809.2(MYH14):c.5987G>A (p.Arg1996His) GRCh37: Chr19:50812923 GRCh38: Chr19:50309666	MYH14	R1996H, R1955H, R1963H	not provided, Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Apr 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89401331.	NM_001145809.2(MYH14):c.5965G>C (p.Gly1989Arg) GRCh37: Chr19:50812901 GRCh38: Chr19:50309644	MYH14	G1948R, G1956R, G1989R	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89401232.	NM_001145809.2(MYH14):c.5961-4A>C GRCh37: Chr19:50812893 GRCh38: Chr19:50309636	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89397933.	NM_001145809.2(MYH14):c.4903G>A (p.Glu1635Lys) GRCh37: Chr19:50792843 GRCh38: Chr19:50289586	MYH14	E1594K, E1635K, E1602K	not specified, Autosomal dominant nonsyndromic hearing loss 4A	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 89397834.	NM_001145809.2(MYH14):c.4778G>A (p.Arg1593Gln) GRCh37: Chr19:50792718 GRCh38: Chr19:50289461	MYH14	R1552Q, R1593Q, R1560Q	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89394735.	NM_001145809.2(MYH14):c.3883C>T (p.Arg1295Trp) GRCh37: Chr19:50781397 GRCh38: Chr19:50278140	MYH14	R1254W, R1262W, R1295W	Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89394636.	NM_001145809.2(MYH14):c.3868G>A (p.Glu1290Lys) GRCh37: Chr19:50781382 GRCh38: Chr19:50278125	MYH14	E1249K, E1257K, E1290K	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89392037.	NM_001145809.2(MYH14):c.2988C>T (p.Ser996=) GRCh37: Chr19:50771579 GRCh38: Chr19:50268322	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89391938.	NM_001145809.2(MYH14):c.2900C>T (p.Thr967Met) GRCh37: Chr19:50771491 GRCh38: Chr19:50268234	MYH14	T926M, T934M, T967M	not provided, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome, Autosomal dominant nonsyndromic hearing loss 4A	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 89388939.	NM_001145809.2(MYH14):c.2114G>A (p.Arg705Gln) GRCh37: Chr19:50760625 GRCh38: Chr19:50257368	MYH14	R672Q, R664Q, R705Q	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 89388840.	NM_001145809.2(MYH14):c.1843G>T (p.Ala615Ser) GRCh37: Chr19:50755908 GRCh38: Chr19:50252651	MYH14	A615S, A607S	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89385941.	NM_001145809.2(MYH14):c.909C>T (p.Ala303=) GRCh37: Chr19:50733816 GRCh38: Chr19:50230559	LOC121852992, MYH14		not provided, Autosomal dominant nonsyndromic hearing loss 4A	Conflicting interpretations of pathogenicity (Oct 9, 2021)	criteria provided, conflicting interpretations
Select item 89385842.	NM_001145809.2(MYH14):c.825C>T (p.Arg275=) GRCh37: Chr19:50730174 GRCh38: Chr19:50226917	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89382743.	NM_001145809.2(MYH14):c.-17G>T GRCh37: Chr19:50706915 GRCh38: Chr19:50203658	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89382644.	NM_001145809.2(MYH14):c.-31C>T GRCh37: Chr19:50706901 GRCh38: Chr19:50203644	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89382545.	NM_001145809.2(MYH14):c.-48C>T GRCh37: Chr19:50706884 GRCh38: Chr19:50203627	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89371346.	NM_001145809.2(MYH14):c.4669C>T (p.Arg1557Cys) GRCh37: Chr19:50789868 GRCh38: Chr19:50286611	MYH14	R1516C, R1557C, R1524C	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89371247.	NM_001145809.2(MYH14):c.4666G>A (p.Ala1556Thr) GRCh37: Chr19:50789865 GRCh38: Chr19:50286608	MYH14	A1515T, A1556T, A1523T	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89371148.	NM_001145809.2(MYH14):c.4645G>A (p.Ala1549Thr) GRCh37: Chr19:50789844 GRCh38: Chr19:50286587	MYH14	A1549T, A1516T, A1508T	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89371049.	NM_001145809.2(MYH14):c.4624C>T (p.Arg1542Trp) GRCh37: Chr19:50789823 GRCh38: Chr19:50286566	MYH14	R1509W, R1542W, R1501W	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89367050.	NM_001145809.2(MYH14):c.3772C>T (p.Arg1258Cys) GRCh37: Chr19:50780105 GRCh38: Chr19:50276848	MYH14	R1258C, R1225C, R1217C	not provided, Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Feb 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89366951.	NM_001145809.2(MYH14):c.3648G>A (p.Thr1216=) GRCh37: Chr19:50779428 GRCh38: Chr19:50276171	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89366852.	NM_001145809.2(MYH14):c.3603C>T (p.Asp1201=) GRCh37: Chr19:50779383 GRCh38: Chr19:50276126	MYH14		not provided, Autosomal dominant nonsyndromic hearing loss 4A	Conflicting interpretations of pathogenicity (Dec 16, 2021)	criteria provided, conflicting interpretations
Select item 89363553.	NM_001145809.2(MYH14):c.2645C>T (p.Ala882Val) GRCh37: Chr19:50766628 GRCh38: Chr19:50263371	MYH14	A882V, A841V, A849V	Autosomal dominant nonsyndromic hearing loss 4A, not provided	Likely benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89363454.	NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys) GRCh37: Chr19:50766582 GRCh38: Chr19:50263325	MYH14	R867C, R834C, R826C	not provided, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome, Hearing impairment, Autosomal dominant nonsyndromic hearing loss 4A	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 89363355.	NM_001145809.2(MYH14):c.2544C>T (p.Ile848=) GRCh37: Chr19:50764851 GRCh38: Chr19:50261594	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89363256.	NM_001145809.2(MYH14):c.2505G>A (p.Gln835=) GRCh37: Chr19:50764812 GRCh38: Chr19:50261555	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89360357.	NM_001145809.2(MYH14):c.1833C>T (p.Val611=) GRCh37: Chr19:50755898 GRCh38: Chr19:50252641	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89360258.	NM_001145809.2(MYH14):c.1657-7T>C GRCh37: Chr19:50753765 GRCh38: Chr19:50250508	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89360159.	NM_001145809.2(MYH14):c.1586A>C (p.Glu529Ala) GRCh37: Chr19:50753010 GRCh38: Chr19:50249753	MYH14	E529A, E521A	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89356760.	NM_001145809.2(MYH14):c.652G>A (p.Val218Met) GRCh37: Chr19:50726565 GRCh38: Chr19:50223308	MYH14	V218M	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89356661.	NM_001145809.2(MYH14):c.595G>C (p.Glu199Gln) GRCh37: Chr19:50726508 GRCh38: Chr19:50223251	MYH14	E199Q	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89356562.	NM_001145809.2(MYH14):c.560A>G (p.Gln187Arg) GRCh37: Chr19:50721026 GRCh38: Chr19:50217769	MYH14	Q187R	not provided, Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 89356463.	NM_001145809.2(MYH14):c.559C>A (p.Gln187Lys) GRCh37: Chr19:50721025 GRCh38: Chr19:50217768	MYH14	Q187K	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89320064.	NM_001145809.2(MYH14):c.*738C>T GRCh37: Chr19:50813785 GRCh38: Chr19:50310528	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89319965.	NM_001145809.2(MYH14):c.*604G>A GRCh37: Chr19:50813651 GRCh38: Chr19:50310394	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89316966.	NM_001145809.2(MYH14):c.5850G>A (p.Glu1950=) GRCh37: Chr19:50812324 GRCh38: Chr19:50309067	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89297567.	NM_001145809.2(MYH14):c.*427T>C GRCh37: Chr19:50813474 GRCh38: Chr19:50310217	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89297468.	NM_001145809.2(MYH14):c.*368C>G GRCh37: Chr19:50813415 GRCh38: Chr19:50310158	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89293569.	NM_001145809.2(MYH14):c.5534G>A (p.Arg1845Gln) GRCh37: Chr19:50804982 GRCh38: Chr19:50301725	MYH14	R1804Q, R1845Q, R1812Q	Inborn genetic diseases, not provided, Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (May 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89293470.	NM_001145809.2(MYH14):c.5384G>T (p.Arg1795Leu) GRCh37: Chr19:50796859 GRCh38: Chr19:50293602	MYH14	R1762L, R1754L, R1795L	Autosomal dominant nonsyndromic hearing loss 4A	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89293371.	NM_001145809.2(MYH14):c.5384G>A (p.Arg1795His) GRCh37: Chr19:50796859 GRCh38: Chr19:50293602	MYH14	R1762H, R1795H, R1754H	Autosomal dominant nonsyndromic hearing loss 4A, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome, Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Dec 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89290172.	NM_001145809.2(MYH14):c.4585C>T (p.Arg1529Cys) GRCh37: Chr19:50789784 GRCh38: Chr19:50286527	MYH14	R1496C, R1529C, R1488C	Autosomal dominant nonsyndromic hearing loss 4A, not provided	Conflicting interpretations of pathogenicity (Sep 1, 2023)	criteria provided, conflicting interpretations
Select item 89290073.	NM_001145809.2(MYH14):c.4510C>T (p.Leu1504=) GRCh37: Chr19:50785070 GRCh38: Chr19:50281813	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89289974.	NM_001145809.2(MYH14):c.4212C>T (p.Ala1404=) GRCh37: Chr19:50783562 GRCh38: Chr19:50280305	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89285675.	NM_001145809.2(MYH14):c.3490C>A (p.Arg1164=) GRCh37: Chr19:50779270 GRCh38: Chr19:50276013	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89285576.	NM_001145809.2(MYH14):c.3434G>A (p.Arg1145Gln) GRCh37: Chr19:50775955 GRCh38: Chr19:50272698	MYH14	R1104Q, R1145Q, R1112Q	not provided, Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Feb 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89282977.	NM_001145809.2(MYH14):c.2429A>C (p.Gln810Pro) GRCh37: Chr19:50764736 GRCh38: Chr19:50261479	MYH14	Q777P, Q769P, Q810P	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89282878.	NM_001145809.2(MYH14):c.2383C>A (p.Pro795Thr) GRCh37: Chr19:50763931 GRCh38: Chr19:50260674	MYH14	P754T, P762T, P795T	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89282779.	NM_001145809.2(MYH14):c.2331C>T (p.Ile777=) GRCh37: Chr19:50762499 GRCh38: Chr19:50259242	MYH14		not provided, Autosomal dominant nonsyndromic hearing loss 4A	Conflicting interpretations of pathogenicity (Apr 1, 2023)	criteria provided, conflicting interpretations
Select item 89279980.	NM_001145809.2(MYH14):c.1368C>T (p.Tyr456=) GRCh37: Chr19:50752282 GRCh38: Chr19:50249025	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89279881.	NM_001145809.2(MYH14):c.1329+7G>A GRCh37: Chr19:50750386 GRCh38: Chr19:50247129	MYH14		not provided, Autosomal dominant nonsyndromic hearing loss 4A	Conflicting interpretations of pathogenicity (Mar 9, 2022)	criteria provided, conflicting interpretations
Select item 89279782.	NM_001145809.2(MYH14):c.1229G>A (p.Arg410His) GRCh37: Chr19:50750279 GRCh38: Chr19:50247022	MYH14	R402H, R410H	not provided, Autosomal dominant nonsyndromic hearing loss 4A	Conflicting interpretations of pathogenicity (Oct 1, 2023)	criteria provided, conflicting interpretations
Select item 89279683.	NM_001145809.2(MYH14):c.1160C>T (p.Ala387Val) GRCh37: Chr19:50747544 GRCh38: Chr19:50244287	MYH14	A387V, A379V	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89276084.	NM_001145809.2(MYH14):c.393C>T (p.Ser131=) GRCh37: Chr19:50714015 GRCh38: Chr19:50210758	MYH14		not provided, Autosomal dominant nonsyndromic hearing loss 4A	Conflicting interpretations of pathogenicity (Apr 6, 2022)	criteria provided, conflicting interpretations
Select item 89275985.	NM_001145809.2(MYH14):c.263G>A (p.Arg88Gln) GRCh37: Chr19:50713885 GRCh38: Chr19:50210628	MYH14	R88Q	Autosomal dominant nonsyndromic hearing loss 4A	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89275886.	NM_001145809.2(MYH14):c.204G>A (p.Ala68=) GRCh37: Chr19:50713826 GRCh38: Chr19:50210569	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 89275787.	NM_001145809.2(MYH14):c.192G>A (p.Gly64=) GRCh37: Chr19:50713814 GRCh38: Chr19:50210557	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87346688.	NM_001145809.2(MYH14):c.6065G>C (p.Gly2022Ala) GRCh37: Chr19:50813001 GRCh38: Chr19:50309744	MYH14	G1981A, G1989A, G2022A	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance	criteria provided, single submitter
Select item 81166789.	NM_001145809.2(MYH14):c.4156A>T (p.Thr1386Ser) GRCh37: Chr19:50783506 GRCh38: Chr19:50280249	MYH14	T1345S, T1353S, T1386S	not specified, not provided, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80506390.	NM_001145809.2(MYH14):c.1834G>A (p.Asp612Asn) GRCh37: Chr19:50755899 GRCh38: Chr19:50252642	MYH14	D612N, D604N	Inborn genetic diseases, not provided, Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Dec 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 79349191.	NM_001145809.2(MYH14):c.3303A>G (p.Leu1101=) GRCh37: Chr19:50775824 GRCh38: Chr19:50272567	MYH14		not provided, Autosomal dominant nonsyndromic hearing loss 4A	Benign/Likely benign (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73274192.	NM_001145809.2(MYH14):c.3467+9T>G GRCh37: Chr19:50775997 GRCh38: Chr19:50272740	MYH14		Autosomal dominant nonsyndromic hearing loss 4A, not provided	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 73185193.	NM_001145809.2(MYH14):c.1133C>T (p.Ser378Leu) GRCh37: Chr19:50747517 GRCh38: Chr19:50244260	MYH14	S370L, S378L	not provided, Autosomal dominant nonsyndromic hearing loss 4A	Benign/Likely benign (Nov 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 66671894.	NM_001145809.2(MYH14):c.1994C>T (p.Ser665Leu) GRCh37: Chr19:50758525 GRCh38: Chr19:50255268	MYH14	S665L	Autosomal dominant nonsyndromic hearing loss 4A, not specified, not provided	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 63805195.	NM_001145809.2(MYH14):c.2893G>A (p.Glu965Lys) GRCh37: Chr19:50771484 GRCh38: Chr19:50268227	MYH14	E932K, E965K, E924K	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance	criteria provided, single submitter
Select item 63702596.	NM_001145809.2(MYH14):c.851T>C (p.Ile284Thr) GRCh37: Chr19:50730200 GRCh38: Chr19:50226943	MYH14	I284T, I276T	not provided, Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 63462597.	NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser) GRCh37: Chr19:50752376 GRCh38: Chr19:50249119	MYH14	A480S, A488S	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome, Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 63181798.	NM_001145809.2(MYH14):c.3825+2T>G GRCh37: Chr19:50780160 GRCh38: Chr19:50276903	MYH14		Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Dec 18, 2017)	criteria provided, single submitter
Select item 62621799.	NM_001145809.2(MYH14):c.2971G>A (p.Glu991Lys) GRCh37: Chr19:50771562 GRCh38: Chr19:50268305	MYH14	E991K, E958K, E950K	not provided, Autosomal dominant nonsyndromic hearing loss 4A	Conflicting interpretations of pathogenicity (May 10, 2023)	criteria provided, conflicting interpretations
Select item 587491100.	NM_001145809.2(MYH14):c.2845C>T (p.Arg949Cys) GRCh37: Chr19:50771436 GRCh38: Chr19:50268179	MYH14	R908C, R949C, R916C	Autosomal dominant nonsyndromic hearing loss 4A	Uncertain significance (Aug 7, 2018)	criteria provided, single submitter

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